MAP3K20 (mitogen-activated protein kinase kinase kinase 20)

Gene

• Entrez ID: 51776
• Gene name: Mitogen-activated protein kinase kinase kinase 20
• Gene symbol: MAP3K20
• Synonyms (NCBI Gene): AZK, CNM6, MLK7, MLT, MLTK, MLTKalpha, MLTKbeta, MRK, SFMMP, ZAK, mlklak, pk
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodime

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1293675104	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553576774	->T	Pathogenic	Stop gained, coding sequence variant
rs1553578407	G>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT522476	hsa-miR-6752-3p	PAR-CLIP	23446348
MIRT522475	hsa-miR-1913	PAR-CLIP	23446348
MIRT522474	hsa-miR-324-3p	PAR-CLIP	23446348
MIRT522472	hsa-miR-4749-3p	PAR-CLIP	23446348
MIRT522473	hsa-miR-210-5p	PAR-CLIP	23446348
MIRT522471	hsa-miR-7976	PAR-CLIP	23446348
MIRT522470	hsa-miR-3173-5p	PAR-CLIP	23446348
MIRT522469	hsa-miR-6799-3p	PAR-CLIP	23446348
MIRT522468	hsa-miR-146b-3p	PAR-CLIP	23446348
MIRT522467	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT522466	hsa-miR-874-3p	PAR-CLIP	23446348

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IMP	11836244
GO:0000165	Process	MAPK cascade	IDA	18331592
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	11836244
GO:0000287	Function	Magnesium ion binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	32289254, 32610081, 35857590
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004706	Function	JUN kinase kinase kinase activity	IDA	11836244, 12220515, 14521931, 32610081
GO:0004709	Function	MAP kinase kinase kinase activity	IDA	11836244, 15737997, 32289254, 32610081, 35857590
GO:0004709	Function	MAP kinase kinase kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	12761180, 15778465, 16189514, 21516116, 21988832, 25416956, 28514442, 31515488, 32296183, 33961781, 35271311, 36931259
GO:0005524	Function	ATP binding	IDA	11836244
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	15684425, 32610081
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006468	Process	Protein phosphorylation	IDA	11836244
GO:0006954	Process	Inflammatory response	IMP	18331592
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007059	Process	Chromosome segregation	IBA
GO:0007254	Process	JNK cascade	IDA	11836244, 12220515, 14521931, 15737997, 32610081
GO:0007254	Process	JNK cascade	IEA
GO:0008219	Process	Cell death	NAS	11836244
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019843	Function	RRNA binding	IEA
GO:0019887	Function	Protein kinase regulator activity	IDA	32289254, 32610081, 35857590
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	IBA
GO:0030154	Process	Cell differentiation	NAS	11836244
GO:0030295	Function	Protein kinase activator activity	IDA	32610081
GO:0031098	Process	Stress-activated protein kinase signaling cascade	IDA	8622669, 35857590
GO:0031098	Process	Stress-activated protein kinase signaling cascade	IDA	35857590
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038066	Process	P38MAPK cascade	IDA	11836244, 15737997, 32610081, 35857590
GO:0038066	Process	P38MAPK cascade	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	26755636
GO:0043022	Function	Ribosome binding	IDA	32289254, 32610081
GO:0043065	Process	Positive regulation of apoptotic process	IDA	10924358
GO:0043068	Process	Positive regulation of programmed cell death	IDA	32289254, 32610081
GO:0046777	Process	Protein autophosphorylation	IDA	12220515, 32289254
GO:0046872	Function	Metal ion binding	IEA
GO:0051403	Process	Stress-activated MAPK cascade	IDA	11836244, 20559024, 32289254, 32610081
GO:0051403	Process	Stress-activated MAPK cascade	IEA
GO:0051604	Process	Protein maturation	IDA	32109412
GO:0060173	Process	Limb development	IEA
GO:0060173	Process	Limb development	IMP	26755636
GO:0070181	Function	Small ribosomal subunit rRNA binding	IDA	32289254
GO:0070269	Process	Pyroptotic inflammatory response	IDA	32109412
GO:0070269	Process	Pyroptotic inflammatory response	IDA	35857590
GO:0070303	Process	Negative regulation of stress-activated protein kinase signaling cascade	IDA	35857590
GO:0071480	Process	Cellular response to gamma radiation	IDA	11836244
GO:0071493	Process	Cellular response to UV-B	IDA	35857590
GO:0071493	Process	Cellular response to UV-B	IDA	32289254, 35857590
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140469	Process	GCN2-mediated signaling	IDA	32610081
GO:0140469	Process	GCN2-mediated signaling	IDA	25329545
GO:0170011	Function	Stalled ribosome sensor activity	IDA	32289254, 32610081, 35857590
GO:1902010	Process	Negative regulation of translation in response to endoplasmic reticulum stress	IDA	32610081
GO:1904291	Process	Positive regulation of mitotic DNA damage checkpoint	IDA	15342622
GO:1904784	Process	NLRP1 inflammasome complex assembly	IDA	22665479

Other IDs

• MIM: 609479
• HGNC: 17797
• e!Ensembl: ENSG00000091436

Protein

• UniProt ID: Q9NYL2
• Protein name: Mitogen-activated protein kinase kinase kinase 20 (EC 2.7.11.25) (Human cervical cancer suppressor gene 4 protein) (HCCS-4) (Leucine zipper- and sterile alpha motif-containing kinase) (MLK-like mitogen-activated protein triple kinase) (Mitogen-activated p
• Protein function: Stress-activated component of a protein kinase signal transduction cascade that promotes programmed cell death in response to various stress, such as ribosomal stress, osmotic shock and ionizing radiation (PubMed:10924358, PubMed:11836244, PubMe
• PDB: 5HES, 5X5O, 6JUT, 6JUU, 7YAW, 7YAZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07714	PK_Tyr_Ser-Thr	16 → 260	Protein tyrosine and serine/threonine kinase	Domain
  PF00536	SAM_1	337 → 408	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Isoform ZAKbeta is the predominant form in all tissues examined, except for liver, in which isoform ZAKalpha is more highly expressed. {ECO:0000269|PubMed:10924358, ECO:0000269|PubMed:11836244}.
• Sequence:

  MSSLGASFVQIKFDDLQFFENCGGGSFGSVYRAKWISQDKEVAVKKLLKIEKEAEILSVL
  SHRNIIQFYGVILEPPNYGIVTEYASLGSLYDYINSNRSEEMDMDHIMTWATDVAKGMHY
  LHMEAPVKVIHRDLKSRNVVIAADGVLKICDFGASRFHNHTTHMSLVGTFPWMAPEVIQS
  LPVSETCDTYSYGVVLWEMLTREVPFKGLEGLQVAWLVVEKNERLTIPSSCPRSFAELLH
  QCWEADAKKRPSFKQIISILESMSNDTSLPDKCNSFLHNKAEWRCEIEATLERLKKLERD
  LSFKEQELKERERRLKMWEQKLTEQSNTPLLPSFEIGAWTEDDVYCWVQQLVRKGDSSAE
  MSVYASLFKENNITGKRLLLLEEEDLKDMGIVSKGHIIHFKSAIEKLTHDYINLFHFPPL
  IKDSGGEPEENEEKIVNLELVFGFHLKPGTGPQDCKWKMYMEMDGDEIAITYIKDVTFNT
  NLPDAEILKMTKPPFVMEKWIVGIAKSQTVECTVTYESDVRTPKSTKHVHSIQWSRTKPQ
  DEVKAVQLAIQTLFTNSDGNPGSRSDSSADCQWLDTLRMRQIASNTSLQRSQSNPILGSP
  FFSHFDGQDSYAAAVRRPQVPIKYQQITPVNQSRSSSPTQYGLTKNFSSLHLNSRDSGFS
  SGNTDTSSERGRYSDRSRNKYGRGSISLNSSPRGRYSGKSQHSTPSRGRYPGKFYRVSQS
  ALNPHQSPDFKRSPRDLHQPNTIPGMPLHPETDSRASEEDSKVSEGGWTKVEYRKKPHRP
  SPAKTNKERARGDHRGWRNF

• Sequence length: 800

Pathways

KEGG:

MAPK signaling pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Centronuclear myopathy	Pathogenic	rs1293675104	RCV004586751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAP3K20-related disorder	Likely pathogenic	rs2106303300	RCV001788990	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, centronuclear, 6, with fiber-type disproportion	Pathogenic; Likely pathogenic	rs1293675104, rs1553578407, rs1553576774	RCV000515349 RCV000515157 RCV000515297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Split hand-foot malformation 1	Pathogenic	rs863225437	RCV000202370	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Split-foot malformation-mesoaxial polydactyly syndrome	Pathogenic; Likely pathogenic	rs3769148, rs863225437, rs1553576774	RCV002279880 RCV000210484 RCV004767316	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER TYPE DISPROPORTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTRODACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT HAND FOOT DEFORMITY 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT HAND-FOOT MALFORMATION	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-FOOT MALFORMATION, MESOAXIAL POLYDACTYLY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10897123		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10897123		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27207779		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22752426		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	11066071, 1964585		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20558189, 29396440		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25013376	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17804716, 21994468, 29071797		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10897123		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27207779		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23887890, 7707383		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29723868, 30535460		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10797525		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	27816943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	GENOMICS_ENGLAND_DG	27816943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	ORPHANET_DG	27816943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital fiber-type disproportion myopathy	Congenital myopathy with fiber type disproportion	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11549352		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31496789		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29077241		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29077241		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12499431		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	1346747		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric lymphoma	Gastric lymphoma	BEFREE	10751367		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21169257		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21169257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	33127881	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	11549352		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35235759	Associate	★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31142678		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10897123, 1347749		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10339464, 10751367, 10907943, 11197361		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	20558189, 29396440		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17804716, 20331627, 21994468, 29071797		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22752426		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20234124		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24807215		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23887890, 7707383		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21847123		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	27207779		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31496789		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	10339464, 10760689, 10797525, 11197361, 12499431, 12931213, 16364768		★☆☆☆☆ Found in Text Mining only
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	Centronuclear Myopathy with fiber-type disproportion	UNIPROT_DG	27816943, 30237576		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	Centronuclear Myopathy with fiber-type disproportion	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	1681110, 21169257, 21305317, 21679465, 21847123, 22752426		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29105997		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22752426		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	17646409, 31142678		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20234124		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31496789		★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY	Split-Foot Malformation With Mesoaxial Polydactyly	UNIPROT_DG	26755636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY	Split-Foot Malformation With Mesoaxial Polydactyly	ORPHANET_DG	26755636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY	Split-Foot Malformation With Mesoaxial Polydactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY	Split-Foot Malformation With Mesoaxial Polydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Split-foot malformation-mesoaxial polydactyly syndrome	Split-Foot Malformation With Mesoaxial Polydactyly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24807215		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	24807215	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24807215, 27727196	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	12499431		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31312514	Associate	★☆☆☆☆ Found in Text Mining only